Search Results
Research Funding
The Division of Genomic Medicine promotes the NHGRI's efforts to advance the application of genomics to medical science and clinical care.
… advance the application of genomics to medical science and clinical care. … Many DGM programs and projects have working … awareness of research efforts in relevant program areas. … Clinical Sequencing Evidence-Generating Research (CSER) … Medicine XI: Research Directions in Genomic Medicine Implementation September 5-6, 2018, La Jolla, California …
Event
On October 10, 2024, NHGRI hosted a pre-application webinar for the Population Genomic Screening in Primary Care NOFOs. The purpose of these NOFOs is to implement and evaluate a pilot program of population genomic screening for common, actionable genomic conditions in a primary care setting.
Staff
Dr. David Adams is a senior clinician in the Office of the Clinical Director, NHGRI, and co-director of the Undiagnosed Diseases Program at NIH. He serves as deputy director of clinical genomics in both.
… Diseases Program (UDP) and the NHGRI Office of the Clinical Director. After completing his M.D. and Ph.D. (under … Program at its founding in 2008, became deputy director of clinical genomics in the UDP and the NHGRI Office of the Clinical Director in 2014, NHGRI associate investigator in …
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
… Wendy Introne, M.D. … Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics … Medical Center in Washington, D.C.; fellowship training in clinical genetics and clinical biochemical genetics from the NIH. Dr. Introne then …
News Release
eMERGE Network will support multiple clinical sites and a coordinating center with $75 million over five years.
… Ganguly, Ph.D. … eMERGE Network will support multiple clinical sites and a coordinating center with $75 million … for diverse populations and to integrate their use in clinical care. The eMERGE Network is supported by the … eMERGE Network  to support both a coordinating center and clinical sites specifically focused on better understanding …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
Research at NHGRI
The Social and Behavioral Research Branch conducts research to apply genomic discoveries to improve health and clinical care.
… approaches for the integration of genomic discoveries into clinical and community contexts. … Our research focuses on a … through using animal models to explore these connections. Clinical translation of genomic discovery We approach clinical translation through several methods. We consider the …
News Release
NIH will renew three awards totaling $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic variants for use in precision medicine.
… $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and … The use of genome sequencing in medical research and clinical practice has become more common in recent years, but … 60 expert panels, which have collected and archived the clinical impact of thousands of genes and genomic variants. …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… autotemcel and exagamglogene autotemcel ), and through clinical trials . While there are a number of clinical trials for sickle cell gene therapy, the journey can … each step. … …  Step 1: Referral for participation in a clinical trial or a treatment  If you are referred to a …
Staff
Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
… Amanda Ombrello, M.D. … Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of … physician, she leads the Inflammatory Disease Section’s clinical team overseeing the care of greater than 2000 … … Amanda Ombrello, M.D. … Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of …